Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A homozygous MYBPC3 gene mutation associated with a severe phenotype and a high risk of sudden death in a family with hypertrophic cardiomyopathy.

Revista espanola de cardiologia - 1 May 2009

Ortiz Martín F, Rodríguez-García María Isabel, Hermida-Prieto Manuel, Fernández Xusto, Veira Elena, Barriales-Villa Roberto, Castro-Beiras Alfonso, Monserrat Lorenzo

Abstract excerpt

Genetic studies can play a key role in the comprehensive evaluation of familiar hypertrophic cardiomyopathy and in the development of individualized medicine. Although only a few cases have been described, there exists a group of patients with complex genotypes that are associated with severe disease manifestations and a high risk of sudden death. We describe a family in which some members experienced the early...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged
Share to Cardiomyopathy, Hypertrophic

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Carrier Proteins

Share to Death, Sudden, Cardiac

Share to Pedigree

Share to Polymorphism, Single-Stranded Conformational

Share to Ultrasonography

Source

Identifiers

PMID: 19406073
DOI: 10.1016/s1885-5857(09)71841-9

Genes

MYBPC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A homozygous MYBPC3 gene mutation associated with a severe phenotype and a high risk of sudden death in a family with hypertrophic cardiomyopathy.PMID 19406073Read ↗

A novel MYBPC3 c.2737+1 (IVS26) G>T mutation responsible for high-risk hypertrophic cardiomyopathy.Semantic proximity Read ↗

A Novel Truncating Variant in MYBPC3 Causes Hypertrophic CardiomyopathySemantic proximity Read ↗

Generation of induced pluripotent stem cells from an individual with early onset and severe hypertrophic cardiomyopathy linked to MYBPC3: c.772G > A mutation.Semantic proximity Read ↗

Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology.Semantic proximity Read ↗

Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3.Semantic proximity Read ↗

Homozygous missense MYBPC3 Pro873His mutation associated with increased risk for heart failure development in hypertrophic cardiomyopathy.Semantic proximity Read ↗

An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy.Semantic proximity Read ↗

Clinical Features and Prognostic Implications of Familial Hypertrophic Cardiomyopathy Related to the Cardiac Myosin-Binding Protein C GeneSemantic proximity Read ↗

Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy.Semantic proximity Read ↗

Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy.Semantic proximity Read ↗

The Role of Cardiac Myosin Binding Protein C3 in Hypertrophic Cardiomyopathy-Progress and Novel Therapeutic Opportunities.Semantic proximity Read ↗

[P1208fs mutation in the cardiac myosin binding protein C is associated with hypertrophic cardiomyopathy in a Chinese pedigree].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.